Incidental Mutation 'R1301:Chd1l'
| ID |
158348 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chd1l
|
| Ensembl Gene |
ENSMUSG00000028089 |
| Gene Name |
chromodomain helicase DNA binding protein 1-like |
| Synonyms |
Snf2p, 4432404A22Rik |
| MMRRC Submission |
039367-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.293)
|
| Stock # |
R1301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
97468058-97517519 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 97510964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029730]
|
| AlphaFold |
Q9CXF7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029730
|
| SMART Domains |
Protein: ENSMUSP00000029730
Gene: ENSMUSG00000028089
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
36 |
224 |
1.83e-38 |
SMART |
|
HELICc
|
371 |
453 |
7.45e-21 |
SMART |
|
low complexity region
|
548 |
570 |
N/A |
INTRINSIC |
|
coiled coil region
|
643 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
692 |
709 |
N/A |
INTRINSIC |
|
PDB:2FG1|A
|
718 |
878 |
6e-9 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197304
|
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.3%
- 20x: 82.6%
|
| Validation Efficiency |
96% (67/70) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm2 |
T |
A |
4: 144,291,635 (GRCm39) |
I24L |
probably benign |
Het |
| Ano1 |
A |
G |
7: 144,187,426 (GRCm39) |
W447R |
possibly damaging |
Het |
| Blm |
T |
A |
7: 80,105,165 (GRCm39) |
K103* |
probably null |
Het |
| Camta2 |
A |
G |
11: 70,567,230 (GRCm39) |
I675T |
probably benign |
Het |
| Catsperz |
G |
A |
19: 6,902,450 (GRCm39) |
R15C |
probably damaging |
Het |
| Corin |
C |
A |
5: 72,462,276 (GRCm39) |
E844D |
possibly damaging |
Het |
| Cyb5rl |
T |
G |
4: 106,938,104 (GRCm39) |
M127R |
probably damaging |
Het |
| Dcdc2a |
A |
T |
13: 25,286,569 (GRCm39) |
N164I |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 73,185,528 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
T |
C |
17: 71,562,960 (GRCm39) |
|
probably benign |
Het |
| Epb41l2 |
T |
A |
10: 25,319,800 (GRCm39) |
V211D |
probably damaging |
Het |
| Fbxo47 |
C |
T |
11: 97,759,427 (GRCm39) |
M166I |
probably benign |
Het |
| Golm1 |
T |
C |
13: 59,786,187 (GRCm39) |
D335G |
probably damaging |
Het |
| Gpn1 |
T |
A |
5: 31,660,773 (GRCm39) |
M188K |
probably damaging |
Het |
| Gpr84 |
T |
A |
15: 103,217,646 (GRCm39) |
S144C |
probably damaging |
Het |
| Grm8 |
G |
T |
6: 27,981,200 (GRCm39) |
Q237K |
possibly damaging |
Het |
| Gsdmd |
C |
A |
15: 75,738,908 (GRCm39) |
|
probably null |
Het |
| Hmgcr |
G |
A |
13: 96,795,528 (GRCm39) |
T347I |
probably damaging |
Het |
| Hsd17b7 |
T |
A |
1: 169,788,774 (GRCm39) |
|
probably benign |
Het |
| Hsd3b9 |
G |
A |
3: 98,354,182 (GRCm39) |
Q106* |
probably null |
Het |
| Klhl7 |
T |
G |
5: 24,364,489 (GRCm39) |
W508G |
probably damaging |
Het |
| Lrp2 |
C |
A |
2: 69,258,948 (GRCm39) |
D4581Y |
probably damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,840,968 (GRCm39) |
N1357D |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,380,451 (GRCm39) |
|
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,577,692 (GRCm39) |
T329A |
probably damaging |
Het |
| Mroh9 |
C |
T |
1: 162,871,552 (GRCm39) |
|
probably null |
Het |
| Mta2 |
A |
G |
19: 8,926,550 (GRCm39) |
|
probably benign |
Het |
| Myo3a |
A |
T |
2: 22,271,906 (GRCm39) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,384,352 (GRCm39) |
D153G |
probably benign |
Het |
| Nup133 |
T |
C |
8: 124,644,156 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
C |
T |
6: 91,019,329 (GRCm39) |
V259M |
possibly damaging |
Het |
| Or10ak14 |
C |
T |
4: 118,610,816 (GRCm39) |
M308I |
probably benign |
Het |
| Or5b112 |
A |
T |
19: 13,319,211 (GRCm39) |
I30F |
probably benign |
Het |
| Or9i14 |
A |
T |
19: 13,792,726 (GRCm39) |
V76D |
probably damaging |
Het |
| Otog |
C |
T |
7: 45,939,113 (GRCm39) |
R2048C |
probably damaging |
Het |
| Pacc1 |
T |
C |
1: 191,080,632 (GRCm39) |
V284A |
probably damaging |
Het |
| Paqr7 |
T |
C |
4: 134,235,124 (GRCm39) |
L327P |
probably damaging |
Het |
| Parl |
A |
G |
16: 20,105,676 (GRCm39) |
S249P |
probably damaging |
Het |
| Phc1 |
A |
G |
6: 122,302,833 (GRCm39) |
I230T |
probably benign |
Het |
| Pitpnm1 |
T |
G |
19: 4,160,831 (GRCm39) |
|
probably null |
Het |
| Plpp1 |
A |
G |
13: 112,971,477 (GRCm39) |
Y48C |
probably damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,812,870 (GRCm39) |
F194L |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,416,159 (GRCm39) |
V1651D |
possibly damaging |
Het |
| Serpinb1c |
T |
A |
13: 33,080,943 (GRCm39) |
R47* |
probably null |
Het |
| Sis |
T |
C |
3: 72,853,915 (GRCm39) |
T521A |
possibly damaging |
Het |
| Slc16a9 |
A |
G |
10: 70,118,308 (GRCm39) |
D209G |
probably benign |
Het |
| Slc26a4 |
A |
T |
12: 31,575,567 (GRCm39) |
C706* |
probably null |
Het |
| Slc37a2 |
A |
G |
9: 37,148,177 (GRCm39) |
V325A |
probably benign |
Het |
| Speg |
T |
A |
1: 75,378,145 (GRCm39) |
D784E |
probably damaging |
Het |
| Sycp1 |
T |
C |
3: 102,827,938 (GRCm39) |
I270V |
probably benign |
Het |
| Tatdn2 |
T |
A |
6: 113,681,076 (GRCm39) |
F309I |
probably damaging |
Het |
| Tmem67 |
T |
C |
4: 12,089,400 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
T |
A |
7: 63,852,801 (GRCm39) |
|
probably null |
Het |
| Wrn |
T |
C |
8: 33,782,714 (GRCm39) |
R496G |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,300,854 (GRCm39) |
V2299A |
probably benign |
Het |
| Zfp819 |
T |
A |
7: 43,266,524 (GRCm39) |
S260T |
possibly damaging |
Het |
|
| Other mutations in Chd1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Chd1l
|
APN |
3 |
97,497,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01349:Chd1l
|
APN |
3 |
97,498,550 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02115:Chd1l
|
APN |
3 |
97,497,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02418:Chd1l
|
APN |
3 |
97,488,415 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02717:Chd1l
|
APN |
3 |
97,491,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03091:Chd1l
|
APN |
3 |
97,470,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03048:Chd1l
|
UTSW |
3 |
97,505,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0125:Chd1l
|
UTSW |
3 |
97,494,465 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0702:Chd1l
|
UTSW |
3 |
97,474,110 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1226:Chd1l
|
UTSW |
3 |
97,469,941 (GRCm39) |
nonsense |
probably null |
|
|
R1237:Chd1l
|
UTSW |
3 |
97,490,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1238:Chd1l
|
UTSW |
3 |
97,490,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1239:Chd1l
|
UTSW |
3 |
97,490,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1366:Chd1l
|
UTSW |
3 |
97,488,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1444:Chd1l
|
UTSW |
3 |
97,490,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1445:Chd1l
|
UTSW |
3 |
97,490,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1500:Chd1l
|
UTSW |
3 |
97,490,121 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1619:Chd1l
|
UTSW |
3 |
97,490,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1640:Chd1l
|
UTSW |
3 |
97,488,307 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1762:Chd1l
|
UTSW |
3 |
97,495,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2291:Chd1l
|
UTSW |
3 |
97,498,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2444:Chd1l
|
UTSW |
3 |
97,497,882 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4008:Chd1l
|
UTSW |
3 |
97,477,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4011:Chd1l
|
UTSW |
3 |
97,477,718 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4106:Chd1l
|
UTSW |
3 |
97,505,019 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4857:Chd1l
|
UTSW |
3 |
97,479,975 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5008:Chd1l
|
UTSW |
3 |
97,491,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5337:Chd1l
|
UTSW |
3 |
97,469,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5844:Chd1l
|
UTSW |
3 |
97,479,883 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6283:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6298:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6309:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6311:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6321:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6327:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6364:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6366:Chd1l
|
UTSW |
3 |
97,501,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6467:Chd1l
|
UTSW |
3 |
97,470,849 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6483:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6493:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6494:Chd1l
|
UTSW |
3 |
97,494,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6585:Chd1l
|
UTSW |
3 |
97,505,088 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6925:Chd1l
|
UTSW |
3 |
97,490,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7148:Chd1l
|
UTSW |
3 |
97,498,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7244:Chd1l
|
UTSW |
3 |
97,505,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8111:Chd1l
|
UTSW |
3 |
97,494,526 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8346:Chd1l
|
UTSW |
3 |
97,469,959 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8852:Chd1l
|
UTSW |
3 |
97,477,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8860:Chd1l
|
UTSW |
3 |
97,477,685 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9164:Chd1l
|
UTSW |
3 |
97,501,356 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9612:Chd1l
|
UTSW |
3 |
97,488,463 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACAAGTGATAAGACCGGGACCCTC -3'
(R):5'- ATTCAGGATGCACAAGCAAATGCC -3'
Sequencing Primer
(F):5'- TAAGACCGGGACCCTCCTATC -3'
(R):5'- CATGGTGATAGCATTTCACAGTCC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation